regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1H_chr8_53710543_53848245 | 53755738 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0053 | 2 | 286 | 0.0070 | -11 | c.127 others(28): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53762240 | AATACAAG others(4): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 286 | 0.0035 | -11 | c.117 others(30): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765451 | AACAACAC others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 286 | 0.0035 | -11 | c.117 others(30): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53770684 | TTATGTAA others(4): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0265a0001c0001t0004g0266 | 2 | 286 | 0.0070 | -11 | c.105 others(28): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 52010924 | ATACCATA others(4): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0276 | 1 | 302 | 0.0033 | -11 | c.51+ others(24): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42419433 | TACAGAGT others(4): Show |
T | intron_variant | MODIFIER | HG01993.hp2 HG02300.hp2 HG02735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0112a0001c0001t0008g0017a0001c0001t0008g0077others(3): Show | 6 | 310 | 0.0194 | -11 | c.330 others(30): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 35/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42435450 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01074.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0004others(7): Show | a0001c0001t0010g0291a0001c0002t0002g0163a0001c0002t0004g0016others(15): Show | 18 | 310 | 0.0581 | -11 | c.312 others(30): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42466031 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp2 HG02129.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0146others(20): Show | 23 | 310 | 0.0742 | -11 | c.232 others(28): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42533189 | TGGGACAG others(4): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0001t0015a0001c0001t0027others(4): Show | a0001c0001t0004g0043a0001c0001t0015g0011a0001c0001t0027g0023others(14): Show | 17 | 310 | 0.0548 | -11 | c.172 others(30): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 20/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42654201 | AGTAATAA others(4): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0185 | 1 | 310 | 0.0032 | -11 | c.49+ others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25414186 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01175.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(15): Show | a0001c0001t0005g0102a0001c0001t0008g0073a0001c0001t0017g0051others(16): Show | 19 | 122 | 0.1557 | -11 | c.76+ others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25490745 | GTTTGTTT others(4): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0020 | a0001c0020t0019 | a0001c0020t0019g0067 | 1 | 122 | 0.0082 | -11 | c.221 others(30): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25528373 | ATCACTGT others(4): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0024 | 1 | 122 | 0.0082 | -11 | c.222 others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25531280 | GTTATATA others(4): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0004g0040a0001c0001t0004g0046a0001c0001t0008g0073others(11): Show | 14 | 122 | 0.1148 | -11 | c.420 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531410 | TTATATAT others(4): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(9): Show | a0001c0001t0001g0036a0001c0001t0011g0061a0001c0001t0013g0005others(10): Show | 13 | 122 | 0.1066 | -11 | c.420 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25657052 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0028a0001c0011t0017 | a0001c0002t0028g0014a0001c0011t0017g0121 | 2 | 122 | 0.0164 | -11 | c.221 others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25837426 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0048a0001c0015t0008 | a0001c0001t0048g0122a0001c0015t0008g0015 | 2 | 122 | 0.0164 | -11 | c.287 others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 29/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25840476 | GAAAATGC others(4): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0025a0001c0001t0026others(3): Show | a0001c0001t0005g0102a0001c0001t0025g0009a0001c0001t0026g0090others(3): Show | 6 | 122 | 0.0492 | -11 | c.295 others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25907367 | ATAAAATA others(4): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0048a0001c0015t0008 | a0001c0001t0048g0122a0001c0015t0008g0015 | 2 | 122 | 0.0164 | -11 | c.318 others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 26002848 | CTGTGTGT others(4): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0004 | 1 | 122 | 0.0082 | -11 | c.337 others(30): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672884 | AAGTATAT others(4): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02071.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0201a0001c0001t0002g0275a0001c0001t0010g0143 | 3 | 314 | 0.0096 | -11 | c.182 others(30): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57687773 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0028 | a0001c0001t0002g0290a0001c0001t0010g0164a0001c0001t0028g0308 | 3 | 314 | 0.0096 | -11 | c.142 others(28): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 13/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG03130.hp1 NA18906.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0011a0001c0001t0041others(1): Show | a0001c0001t0001g0009a0001c0001t0011g0159a0001c0001t0041g0192others(1): Show | 4 | 314 | 0.0127 | -11 | c.182 others(30): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0164 | 1 | 314 | 0.0032 | -11 | c.-25 others(30): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00733.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0019a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077others(25): Show | 28 | 314 | 0.0892 | -11 | c.-26 others(30): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1790409 | CCCCTCTC others(4): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 390 | 0.0026 | -11 | c.237 others(28): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 21/28 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49910290 | CAAACAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01069.hp2 others(19): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(8): Show | a0001c0001t0001g0183a0001c0001t0002g0026a0001c0001t0022g0087others(18): Show | 22 | 254 | 0.0866 | -11 | c.214 others(30): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 20/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(61): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0245a0001c0001t0002g0006a0001c0001t0002g0021others(61): Show | 64 | 254 | 0.2520 | -11 | c.28+ others(26): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51642725 | CCAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0117 | 1 | 312 | 0.0032 | -11 | c.150 others(30): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51642726 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0227 | 1 | 312 | 0.0032 | -11 | c.150 others(30): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51690109 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0012a0001c0001t0013a0001c0001t0064others(15): Show | a0001c0001t0012g0080a0001c0001t0012g0132a0001c0001t0012g0206others(37): Show | 40 | 312 | 0.1282 | -11 | c.723 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 8/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51726889 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0012a0001c0001t0013a0001c0001t0064others(13): Show | a0001c0001t0012g0132a0001c0001t0012g0206a0001c0001t0013g0001others(36): Show | 39 | 312 | 0.1250 | -11 | c.214 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 2/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79118390 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 298 | 0.0034 | -11 | c.558 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79144735 | ATTCTTAT others(4): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0074 | 1 | 298 | 0.0034 | -11 | c.726 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79157396 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0014 | a0014c0022 | a0014c0022t0004 | a0014c0022t0004g0276 | 1 | 298 | 0.0034 | -11 | c.778 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79176527 | AATAGAAG others(4): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0181 | 1 | 298 | 0.0034 | -11 | c.779 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79246201 | GGGCACCA others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0001c0024others(6): Show | a0001c0001t0001a0001c0006t0007a0001c0024t0004others(6): Show | a0001c0001t0001g0100a0001c0001t0001g0118a0001c0006t0007g0290others(18): Show | 22 | 298 | 0.0738 | -11 | c.110 others(30): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79346138 | GTCAGCAC others(4): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0243 | 1 | 298 | 0.0034 | -11 | c.268 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79371370 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0285a0001c0006t0007g0286 | 2 | 298 | 0.0067 | -11 | c.301 others(30): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPAF2_chr17_18013021_18044168 | 18017171 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01167.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025a0001c0003t0001g0026a0001c0003t0001g0230 | 5 | 328 | 0.0152 | -11 | c.*13 others(22): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 849 | chr17 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18017198 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 328 | 0.0031 | -11 | c.*13 others(22): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 822 | chr17 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18030320 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01167.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025a0001c0003t0001g0026a0001c0003t0001g0209others(1): Show | 6 | 328 | 0.0183 | -11 | c.134 others(28): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249897 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0003a0001c0003t0002a0001c0004t0002 | a0001c0002t0003g0019a0001c0003t0002g0187a0001c0004t0002g0008others(2): Show | 7 | 358 | 0.0196 | -11 | c.-35 others(18): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 10 | chr5 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249924 | AAAAAAAA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0003a0001c0003t0002a0001c0003t0005others(10): Show | a0001c0002t0003g0136a0001c0003t0002g0159a0001c0003t0002g0166others(31): Show | 51 | 358 | 0.1425 | -11 | c.-62 others(18): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 37 | chr5 | TogoVar | ||||||
ATRAID_chr2_27207041_27222157 | 27211966 | CCCCGCCC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG03209.hp2 HG03453.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0010a0001c0001t0002g0024 | 7 | 302 | 0.0232 | -11 | c.-40 others(20): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 74 | chr2 | TogoVar | ||||||
ATRAID_chr2_27207041_27222157 | 27221753 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 NA18968.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0001a0003c0003t0004g0004 | 2 | 302 | 0.0066 | -11 | c.*48 others(22): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 4597 | chr2 | TogoVar | ||||||
ATRIP_chr3_48441737_48472645 | 48443241 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03225.hp1 |
a0003 | a0003c0006 | a0003c0006t0014 | a0003c0006t0014g0018 | 2 | 360 | 0.0056 | -11 | c.-36 others(22): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 3495 | chr3 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115230911 | GAGAGAGA others(4): Show |
G | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 128 | 0.0078 | -11 | c.153 others(32): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115230919 | GAGAAAGA others(4): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0084 | 1 | 128 | 0.0078 | -11 | c.153 others(32): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389591 | TTTCATCC others(4): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0031 | 1 | 128 | 0.0078 | -11 | c.317 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | chr10 | TogoVar |